rs587777386, ACTG2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Visceral Myopathy
CUI: C0042781
Disease: Visceral Myopathy
19 0.882 0.040 2 73901430 missense variant G/A snv 0.800 1.000 4 2012 2014
Chronic intestinal pseudo-obstruction
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
10 0.882 0.040 2 73901430 missense variant G/A snv 0.700 0
Visceral Neuropathy, Familial, Autosomal Dominant
CUI: C1864996
Disease: Visceral Neuropathy, Familial, Autosomal Dominant
2 0.882 0.040 2 73901430 missense variant G/A snv 0.700 0